A genome-wide association study of rheumatoid arthritis without antibodies against citrullinated peptides
| العنوان: | A genome-wide association study of rheumatoid arthritis without antibodies against citrullinated peptides |
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| المؤلفون: | Bossini-Castillo L, de Kovel C, Kallberg H, van 't Slot R, Italiaander A, Coenen M, Pp, Tak, Md, Posthumus, Wijmenga C, Huizinga T, Ah, Helm-Van Mil, Stoeken-Rijsbergen G, Rodriguez-Rodriguez L, Balsa A, González-Álvaro I, Ma, González-Gay, Gómez-Vaquero C, Franke B, LifeLines Cohort Study, Vermeulen S, van der Horst-Bruinsma I, Ba, Dijkmans, Gj, Wolbink, Ra, Ophoff, Mt, Maehlen, van Riel P, Merriman M, Klareskog L, Ba, Lie, Merriman T, Jb, Crusius, Brouwer E, Martin J, de Vries N, Toes R, Leonid Padyukov, Bp, Koeleman |
| المساهمون: | Groningen Institute for Gastro Intestinal Genetics and Immunology (3GI), Translational Immunology Groningen (TRIGR), Clinical Immunology and Rheumatology, Landsteiner Laboratory, AII - Amsterdam institute for Infection and Immunity, Rheumatology, CCA - Disease profiling, Medical Microbiology and Infection Prevention, Universitat de Barcelona |
| المصدر: | Annals of the Rheumatic Diseases, 74(3) Bossini-Castillo, L, de Kovel, C, Kallberg, H, van't Slot, R, Italiaander, A, Coenen, M, Tak, P P, Posthumus, M D, Wijmenga, C, Huizinga, T, van der Helm-va Mil, A, Stoeken-Rijsbergen, G, Rodriguez-Rodriguez, L, Balsa, A, Gonzalez-Alvaro, I, Gonzalez-Gay, M A, Gomez-Vaquero, C, Franke, B, Vermeulen, S, van der Horst-Bruinsma, I E, Dijkmans, B A C, Wolbink, G J, Ophoff, R A, Maehlen, M T, van Riel, P, Merriman, M, Klareskog, L, Lie, B A, Merriman, T, Crusius, J B A, Brouwer, E, Martin, J, de Vries, N, Toes, R, Padyukov, L & Koeleman, B P C 2015, ' A genome-wide association study of rheumatoid arthritis without antibodies against citrullinated peptides ', Annals of the Rheumatic Diseases, vol. 74, no. 3, e15 . https://doi.org/10.1136/annrheumdis-2013-204591 Europe PubMed Central Annals of the Rheumatic Diseases, 74(3):15. BMJ PUBLISHING GROUP Annals of the Rheumatic Diseases, 74, e15-e15 Annals of the Rheumatic Diseases, 74(3). BMJ Publishing Group Annals of the rheumatic diseases, 74(3). BMJ Publishing Group Annals of the Rheumatic Diseases, 74(3):e15. BMJ Publishing Group Annals of the Rheumatic Diseases, 74, 3, pp. e15-e15 Recercat. Dipósit de la Recerca de Catalunya instname Dipòsit Digital de la UB Universidad de Barcelona |
| سنة النشر: | 2015 |
| مصطلحات موضوعية: | Genome-wide association study, PROGRESSION, SUSCEPTIBILITY, PREDICT, Arthritis, Rheumatoid, HLA Antigens, Immunology and Allergy, Medicine, Non-U.S. Gov't, RISK, Principal Component Analysis, Research Support, Non-U.S. Gov't, Genomics, VITAMIN-B12, Urological cancers Radboud Institute for Health Sciences [Radboudumc 15], Rheumatoid arthritis, ACID, Pèptids, musculoskeletal diseases, PROTEINS, Immunology, Single-nucleotide polymorphism, Locus (genetics), Human leukocyte antigen, Artritis reumatoide, Research Support, Polymorphism, Single Nucleotide, White People, General Biochemistry, Genetics and Molecular Biology, Healthcare improvement science Radboud Institute for Health Sciences [Radboudumc 18], Rheumatology, Journal Article, Humans, COHORT, Allele, Genomes, Alleles, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], business.industry, medicine.disease, SHARED EPITOPE, Genòmica, Logistic Models, HLA-B Antigens, Case-Control Studies, Inflammatory diseases Radboud Institute for Health Sciences [Radboudumc 5], Citrulline, Monoclonal antibodies, AUTOANTIBODIES, Gene polymorphism, business, Peptides, Anticossos monoclonals, Imputation (genetics), Genome-Wide Association Study, HLA-DRB1 Chains, Meta-Analysis |
| الوصف: | Contains fulltext : 155045.pdf (Publisher’s version ) (Closed access) Introduction Rheumatoid arthritis (RA) patients can be classified based on presence or absence of anticitrullinated peptide antibodies (ACPA) in their serum. This heterogeneity among patients may reflect important biological differences underlying the disease process. To date, the majority of genetic studies have focused on the ACPA-positive group. Therefore, our goal was to analyse the genetic risk factors that contribute to ACPA-negative RA. Methods We performed a large-scale genome-wide association study (GWAS) in three Caucasian European cohorts comprising 1148 ACPA-negative RA patients and 6008 controls. All patients were screened using the Illumina Human Cyto-12 chip, and controls were genotyped using different genome-wide platforms. Population-independent analyses were carried out by means of logistic regression. Meta-analysis with previously published data was performed as follow-up for selected signals (reaching a total of 1922 ACPA-negative RA patients and 7087 controls). Imputation of classical HLA alleles, amino acid residues and single nucleotide polymorphisms was undertaken. Results The combined analysis of the studied cohorts resulted in identification of a peak of association in the HLA-region and several suggestive non-HLA associations. Meta-analysis with previous reports confirmed the association of the HLA region with this subset and an observed association in the CLYBL locus remained suggestive. The imputation and deep interrogation of the HLA region led to identification of a two amino acid model (HLA-B at position 9 and HLA-DRB1 at position 11) that accounted for the observed genome-wide associations in this region. Conclusions Our study shed light on the influence of the HLA region in ACPA-negative RA and identified a suggestive risk locus for this condition. |
| وصف الملف: | image/pdf; application/pdf |
| اللغة: | English |
| تدمد: | 0003-4967 |
| DOI: | 10.1136/annrheumdis-2013-204591 |
| URL الوصول: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c08a3bec7843ef2fc8f313ef19f4ad96 http://hdl.handle.net/1887/101543 |
| Rights: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....c08a3bec7843ef2fc8f313ef19f4ad96 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 00034967 |
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| DOI: | 10.1136/annrheumdis-2013-204591 |